Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)

Abstract

In the present study the clinical course and imaging of early and late‐onset forms of Krabbe disease are analyzed. We report on 11 patients with a biochemical diagnosis of galactosyl ceramide β‐galactoside deficiency. Two presented as the classic infantile form and died within the second year of life. In 9 children the first clinical signs, such as gait difficulties and visual failure, started after age 2 years. All these patients developed slow regression of motor and mental capacities, and most of them died within their first decade. In patients of both groups computed tomography (CT) and magnetic resonance imaging (MRI) were performed. In the late‐onset form, hypodensities of the central white matter and pyramidal tracts were the leading radiological signs, whereas in the early‐onset form, hyperdensities and cerebellar white matter lesions were also detected. From our results it becomes clear that variability of Krabbe disease refers not only to clinical manifestation but also to CT and MRI findings. Better knowledge of phenotypic and radiological diversity will help to understand the pathogenesis of the disease. © 1996 Wiley‐Liss, Inc.

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

“…Magnetic resonance imaging (MRI) shows diffuse leukodystrophy. Hypodensities of the central white matter and pyramidal tracts are the leading radiological signs (Lyon et al 1991;Phelps et al 1991;Kolodny et al 1991;Luzi et al 1996; Barone et al 1996).…”

Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review

“…Galactosylsphingosine is highly toxic to oligodendrocytes leading to severe myelin loss from oligodendrocyte destruction . GLD is an autosomal recessive disorder caused by mutations in the galactosylceramidase gene located on chromosome 14q31 . Infantile, juvenile and adult forms are recognized.…”

“…The majority of cases are an early infantile form (onset between 1–6 months old) with the later onset forms being exceedingly rare . Patients demonstrate rapid psychomotor regression with generalized rigidity with tonic spasms . Opisthotonic posturing is common with clenched fists and myoclonic jerks .…”

A practical approach to diagnosing adult onset leukodystrophies

“…Clinical presentation: The adult form (10% of cases) typically presents with pyramidal tract dysfunction and spastic paraparesis 53 54. Patients can also develop cognitive decline, seizures and cortical blindness 55.…”